Pregnancy can be risky - but one of the greatest risks is fear: is your baby normal and healthy? Here's a look at pregnancy and the pros and cons of prenatal testing.
Linda Sherwood

Prenatal testingUnexpected worry
After worrying about a "double bubble" on her baby's bowels for more than two months, first-time mom, Jessica Ashworth of Grayling, Michigan, was relieved to find out the bubble had disappeared and her baby was once more deemed healthy by the experts. Despite the clean bill of health, the months of worry played a toll on Jessica. It wasn't until the birth of her son, Alex, two months later, that she finally stopped worrying.

"You could say I snapped at pretty much everybody," said Jessica. "I hated being pregnant." Jessica's pregnancy turned into a nightmare after she had a routine ultrasound that detected the bubble.

At the age of 21, a problem pregnancy was the last thing Jessica expected. "I was jealous of people with perfectly healthy babies," she said. Pregnancy, which is supposed to be a happy time, became a time of anxiety. She talked to genetic counselors and doctors who told her the odds of her baby having Down syndrome and outlined her options.

Don't forget that you DO have options
Doctors gave her possible options including invasive tests such as amniocentesis and chorionic villus sampling (CVS). Both procedures carry risks for the fetus including miscarriage. One alternative not mentioned to her was her ability to choose not to have any of the tests done.

"Any kind of prenatal testing brings as many problems as it solves," says Dr Aliza Kolker, a professor of sociology at George Mason University and co-author of Prenatal Testing: A Sociological Perspective.

Even for the vast majority of women who get good news, it adds anxiety and changes the nature of the pregnancy," said Kolker. "You can't let yourself feel happy about the pregnancy because you don't know."

Jerri Ledford of Nashville, Tennessee, agrees. "I didn't want to know. Knowing would only have meant worrying." Jerri's doctor recommended more invasive tests because of a family history of Down syndrome. "I only had the basic routine type tests done. Everything else I refused. It wasn't so much a decision as a feeling in my heart that no matter how things turned out, that was how they were meant to be.

"I knew what the tests entailed, what the benefits and the risks were," she said. "I make it my business to know anything that relates to my health or healthcare."

No testing
Registered nurse Irene Denton of Chippewa Lake, Ohio, decided to not have any testing done except for the glucose tolerance test that checks for elevated blood sugar and an ultrasound at 20 weeks. Familiar with the testing available, Irene decided not to have the triple serum testing, which is also known as alpha feta protein (AFP), because it isn't always accurate.

"It wouldn't have changed our minds about the pregnancy and it could have caused unnecessary worry," said Irene. "I believe there is a reason for everything. I don't feel that making a decision on testing that could be inaccurate is appropriate. The ultrasound satisfied us to know that our child had all the necessary parts."

Pregnancy has its risks
"There aren't any tests that guarantee a healthy baby," says Dr Marion Verp, a genetic specialist at the University of Chicago. "Screening tests, like ultrasounds and maternal serum tests, say what is the level of risk, but they are not diagnostic tests."

While amniocentesis and CVS can diagnose chromosomal abnormalities and some gene deformities, these tests cannot determine the severity of the condition. One of the most commonly tested for conditions, Down syndrome, can be expressed in a wide range of severity from mild to severe. It is impossible to tell from the chromosomal testing the range of severity expressed for your child.

While expecting their second child, James Walsh of California and his wife were told there was a slight risk their child could have Down syndrome. After weighing the odds, James and his wife decided not to have an amniocentesis to determine whether or not their child did in fact have Down syndrome. "A pregnancy is an inherently risky situation," says the dad-to-be. "There are just so many things that can go wrong." In their case, the odds of having Down syndrome were less than the odds of a miscarriage from an amniocentesis. The decision, however, didn't keep James and his wife from worrying and wondering.

"Some days more than others, the 1 in 100 chance of the baby having Down syndrome loomed large for me," says James. "My wife told me she felt the same way." By the time their child was born in July 1994, they had lived with the 1 in 100 chance of a problem long enough that it had become one more risk in a risk-prone process.

His experience, however, led James to write a book, True Odds, which looks at how risk is measured and managed and how perceptions of risk are formed and manipulated.

Evaluate your options
Prenatal testing isn't for everyone. While amniocentesis and CVS results can bring you peace of mind if you have certain risk factors, it can also cause anxiety and stress. Both procedures do carry slight risks of miscarriage.

"Amnio is probably slightly safer than CVS," said Dr Verp. Amniocentesis has a one-half percent (0.5 percent) risk of miscarriage compared to a one percent (1.0 percent) risk with CVS, according to Dr Verp.

One of the first questions parents need to consider when contemplating an amniocentesis or CVS procedure is what they would do if a chromosomal defect were diagnosed. While these tests can determine whether a problem exists, it can't cure the condition.

An amnio or a CVS test was never an option for Christine Gonzales of Springfield, Missouri. "Chromosomal defects are part of the roll of the dice that is conception," said Gonzales. "In my opinion, amnio and CVS are not appropriate unless the woman would choose to interrupt the pregnancy. Since that is not an option for us, we would not see any reason to have these tests."

For Jessica Ashworth, however, the amniocentesis would have been an opportunity to ease her mind. Although she had no intentions of aborting the pregnancy, if the bubble hadn't disappeared, she would have considered having an amniocentesis to ease her worries.

Important questions to ask
Dr Verp recommends patients ask three questions before undergoing prenatal testing of any sort.

1. What is the reason for the test?

2.What information will you get from the test?

3.What information will you not get from the test?

Other factors to consider include where the testing is done and if the laboratory was certified by either CLIA or CAP -- organizations that set standards and provide oversight for laboratory procedures.

Advances in amniocentesis
One of the biggest drawbacks for amniocentesis was the long waiting period, which at one point stretched from two weeks to a month, before the test results were available. The waiting period now averages about seven days, according to Dr Verp. Some specific chromosomal abnormalities can even be tested for with the results given over night.

A separate test that can be performed overnight looks at chromosomes 13, 18, 21, x and y, which are the most common chromosome abnormalities found in genetic testing, says Dr Verp. Results from CVS tests can be back in five days.

While the time it takes for test results to be available has improved dramatically, the time weighs heavily on the parents as they wait.

"I still wish I hadn't gone through all that unnecessary worrying," said Jessica Ashworth. "I just wish I could wave a magic wand, and poof, I'd have a healthy baby tomorrow."PregnancyAndBaby.com

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